Varaico: Literature-Extracted Genetic Variants

Gene:DYSF
Variant:p.R1023W
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DYSF

NM_001130987.2:p.R1023W

Associated Papers

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.

Izumi R et al.

Human Mutation, 2020

Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Fogel BL et al.

Jama Neurology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."